ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328828
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ile593Lys
CA005445
NM_172056.2:c.1778T>A